|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:dilated_cardiomyopathy
gptkb:familial_partial_lipodystrophy
gptkb:Emery-Dreifuss_muscular_dystrophy
gptkb:limb-girdle_muscular_dystrophy
gptkb:Hutchinson-Gilford_progeria_syndrome
Charcot-Marie-Tooth disease type 2B1
|
|
gptkbp:compatibleWith
|
gptkb:germ_cells
|
|
gptkbp:discoveredBy
|
gptkb:Howard_J._Worman
|
|
gptkbp:encodes
|
gptkb:lamin_A
gptkb:lamin_C
|
|
gptkbp:Entrez_Gene_ID
|
4000
ENSG00000160789
|
|
gptkbp:expressedIn
|
most somatic cells
|
|
gptkbp:firstDescribed
|
1986
|
|
gptkbp:function
|
chromatin organization
regulation of gene expression
nuclear stability
structural component of nuclear lamina
|
|
gptkbp:hasTranscriptVariant
|
gptkb:lamin_A
gptkb:lamin_C
progerin
|
|
gptkbp:HGNC_ID
|
6636
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LMNA gene
|
|
gptkbp:length
|
572 amino acids (lamin C)
664 amino acids (lamin A)
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q22
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
splice-site
|
|
gptkbp:OMIM
|
150330
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Lmna
|
|
gptkbp:orthologInZebrafish
|
lmna
|
|
gptkbp:pathway
|
apoptosis
cell cycle regulation
nuclear envelope organization
|
|
gptkbp:proteinFamily
|
coiled-coil domain
nuclear localization signal
intermediate filament proteins
CaaX box
|
|
gptkbp:subcellularLocation
|
nuclear envelope
nucleoplasm
|
|
gptkbp:UniProtID
|
gptkb:P02545
|
|
gptkbp:bfsParent
|
gptkb:Emery-Dreifuss_muscular_dystrophy
gptkb:progeria
|
|
gptkbp:bfsLayer
|
7
|